IndraLab

Statements

SCN8A activates MATN3. 5 / 5
| 5
reach
"Mice expressing the MED causing Matn3 p.V194D mutation demonstrated a high level of mutant matrilin-3 retention."
25693198
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"All of the MED causing mutations in MATN3 are found in the single A-domain of matrilin-3 in either the beta-strand or alpha-helix regions."
20428984
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"To date, all MED causing mutations in matrilin-3 are located within the single A-domain and primarily affect residues that comprise the central beta-sheet."
23956175
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"Interesting, all of MED causing mutations in MATN3 are found in the single A-domain of matrilin-3 in either the beta-strand or alpha-helix regions."
19851784
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"In contrast, COMP-null mice show no differences in collagen fibril diameter and these data therefore suggest that PSACH and MED causing mutations in matrilin-3 and COMP can cause changes in the ultra-structure of the cartilage ECM through antimorphic mechanisms."
23951406